Variant report

Variant	esv2762257
Chromosome Location	chr2:54187617-54192015
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:54185625..54188123-chr2:54194333..54197670,3	MCF-7	breast:
2	chr2:54190368..54192266-chr2:54196698..54199414,2	MCF-7	breast:
3	chr2:54188266..54193064-chr2:54193123..54200059,18	K562	blood:
4	chr2:54182588..54184122-chr2:54186046..54188371,2	K562	blood:
5	chr2:54186673..54188652-chr2:54193510..54195241,2	MCF-7	breast:
6	chr2:54190729..54192357-chr2:54239475..54241800,2	MCF-7	breast:
7	chr2:54182457..54184088-chr2:54186871..54190215,3	K562	blood:
8	chr2:54184275..54188127-chr2:54193177..54197889,6	K562	blood:
9	chr2:54184186..54188575-chr2:54196120..54198955,4	MCF-7	breast:
10	chr2:54178658..54180382-chr2:54186719..54189310,2	K562	blood:
11	chr16:10837813..10838339-chr2:54191861..54192361,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000170634	chromatin interactions
ENSG00000068878	chromatin interactions

Extended variants
information (count: 196 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:196 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6751340	chr2:54187617-54187618	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs76623912	chr2:54187644-54187645	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs558809160	chr2:54187651-54187652	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs150996702	chr2:54187660-54187661	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs181914429	chr2:54187662-54187663	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs546500056	chr2:54187696-54187697	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs140986416	chr2:54187722-54187723	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs546097476	chr2:54187728-54187729	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs529100372	chr2:54187735-54187736	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs542986399	chr2:54187818-54187819	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs559883660	chr2:54187839-54187840	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs805339	chr2:54187846-54187847	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs533001624	chr2:54187861-54187862	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs17045439	chr2:54187868-54187869	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs150228687	chr2:54187887-54187888	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs10189699	chr2:54187890-54187891	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs571122185	chr2:54187935-54187936	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs527389818	chr2:54187963-54187964	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs547129414	chr2:54187971-54187972	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs567895573	chr2:54188000-54188001	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs536437944	chr2:54188020-54188021	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs113506637	chr2:54188026-54188027	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs374264576	chr2:54188043-54188044	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs538914931	chr2:54188070-54188071	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs558923025	chr2:54188083-54188084	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs376310809	chr2:54188117-54188118	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs572305687	chr2:54188128-54188129	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs541562056	chr2:54188151-54188152	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs529722059	chr2:54188199-54188200	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs554757581	chr2:54188202-54188203	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs573917265	chr2:54188254-54188255	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs542823143	chr2:54188272-54188273	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs201998659	chr2:54188288-54188289	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs76479676	chr2:54188296-54188297	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs551260782	chr2:54188302-54188303	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs141506296	chr2:54188326-54188327	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs544933892	chr2:54188333-54188334	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs564899404	chr2:54188369-54188370	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs368141568	chr2:54188371-54188372	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs11692784	chr2:54188394-54188395	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs186940789	chr2:54188404-54188405	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs532399899	chr2:54188483-54188484	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs549543288	chr2:54188501-54188502	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs567231972	chr2:54188524-54188525	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs530256997	chr2:54188525-54188526	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs549980724	chr2:54188536-54188537	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs569877608	chr2:54188571-54188572	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs371581306	chr2:54188603-54188604	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs538952243	chr2:54188632-54188633	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs552594852	chr2:54188652-54188653	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:410 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54151000-54189800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:54153400-54194600	Weak transcription	Fetal Brain Male	brain
3	chr2:54156600-54188000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:54156600-54190000	Weak transcription	Spleen	Spleen
5	chr2:54159200-54188000	Weak transcription	Colonic Mucosa	Colon
6	chr2:54159200-54188000	Weak transcription	Esophagus	oesophagus
7	chr2:54159200-54188200	Weak transcription	Small Intestine	intestine
8	chr2:54159200-54189400	Weak transcription	Aorta	Aorta
9	chr2:54159200-54189800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:54159400-54195800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:54161600-54189800	Weak transcription	Ovary	ovary
12	chr2:54171000-54188600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:54173400-54191400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:54174200-54195600	Weak transcription	Thymus	Thymus
15	chr2:54174400-54188000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:54174400-54188600	Weak transcription	GM12878-XiMat	blood
17	chr2:54175200-54193000	Weak transcription	Fetal Intestine Small	intestine
18	chr2:54175200-54195400	Weak transcription	Fetal Stomach	stomach
19	chr2:54175400-54188400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:54175800-54189800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr2:54175800-54190000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:54176000-54187800	Weak transcription	Fetal Muscle Leg	muscle
23	chr2:54176000-54189800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:54176200-54188400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr2:54176200-54188400	Weak transcription	HMEC	breast
26	chr2:54176200-54188600	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr2:54176200-54189800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:54176200-54189800	Weak transcription	NH-A	brain
29	chr2:54176200-54191600	Weak transcription	NHDF-Ad	bronchial
30	chr2:54176200-54192000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:54176200-54194200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:54176200-54194600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:54176200-54195400	Weak transcription	Fetal Intestine Large	intestine
34	chr2:54176200-54195400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr2:54176200-54196000	Weak transcription	Fetal Thymus	thymus
36	chr2:54176200-54196200	Weak transcription	Placenta	Placenta
37	chr2:54176400-54187800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:54176400-54188200	Weak transcription	Primary T cells from cord blood	blood
39	chr2:54176400-54188400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr2:54176400-54189000	Weak transcription	Fetal Kidney	kidney
41	chr2:54176400-54194800	Weak transcription	NHLF	lung
42	chr2:54176400-54195000	Weak transcription	HSMM	muscle
43	chr2:54176600-54188600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr2:54176600-54189200	Weak transcription	Adipose Nuclei	Adipose
45	chr2:54176800-54188400	Weak transcription	NHEK	skin
46	chr2:54176800-54192200	Weak transcription	Hela-S3	cervix
47	chr2:54177000-54188000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:54177000-54189800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr2:54177000-54189800	Weak transcription	Dnd41	blood
50	chr2:54177000-54194800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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